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辅助生殖技术妊娠中唐氏综合征的产前筛查:一项系统综述。

Prenatal screening of Down syndrome in assisted reproductive techniques pregnancies: A systematic review.

作者信息

Meamar Fatemeh Zahra, Savabi-Esfahani Mitra, Farajkhoda Tahmineh

机构信息

Department of Midwifery and Reproductive Health, Faculty of Nursing and Midwifery, Reproductive Sciences and Sexual Health Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Department of Midwifery and Reproductive Health, Faculty of Nursing and Midwifery, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Int J Reprod Biomed. 2025 Jun 10;23(3):225-240. doi: 10.18502/ijrm.v23i3.18773. eCollection 2024 Apr.

DOI:10.18502/ijrm.v23i3.18773
PMID:40567908
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12186174/
Abstract

BACKGROUND

The interpretation of Down syndrome screening results in assisted reproductive technology (ART) pregnancies is challenging. Despite the high psychological burden that false positive results impose on parents, studies that have addressed interpretation of both serum and sonographic markers in both rounds of screening for Down syndrome diagnosis in post-ART pregnancies are limited.

OBJECTIVE

This review study investigated the types of serum screening and imaging for prenatal diagnosis of Down syndrome in ART pregnancies to know and correctly interpret the results of prenatal screenings in these pregnancies.

MATERIALS AND METHODS

In this systematic review, an extensive search was conducted in Persian and English in PubMed, Web of Science, Scopus, SID, and Google Scholar without any time limit until January 2024 using appropriate keywords. PRISMA guideline, STROBE, and CONSORT checklists were used.

RESULTS

Review of 30 articles showed in the first screening, pregnancy-associated plasma protein-A was significantly lower than normal values compared to spontaneous pregnancies, while free beta-human chorionic gonadotropin, especially in the in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) was significantly higher. Some studies also indicated an increase in nuchal translucency in the first trimester of pregnancies resulting from ART. Biochemical markers of second screening, in some studies, showed an increase in inhibin-A, a decrease in α-fetoprotein, and unconjugated estriol were evident compared to normal values.

CONCLUSION

Marker levels may be different for the presence of ovulation-stimulating hormones, multiple corpora lutea, twins or multiplets, type of IVF, and changes in egg cytoplasm in ICSI. Study suggests concentration of maternal serum markers, especially free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A, should be adjusted differently for each ART (IVF and ICSI separately).

摘要

背景

辅助生殖技术(ART)妊娠中唐氏综合征筛查结果的解读具有挑战性。尽管假阳性结果会给父母带来沉重的心理负担,但针对ART后妊娠两轮唐氏综合征诊断中血清和超声标志物解读的研究有限。

目的

本综述研究调查了ART妊娠中用于唐氏综合征产前诊断的血清筛查和成像类型,以便了解并正确解读这些妊娠中产前筛查的结果。

材料与方法

在本系统综述中,于2024年1月前不限时间地在PubMed、科学网、Scopus、SID和谷歌学术中使用适当关键词以波斯语和英语进行了广泛检索。使用了PRISMA指南、STROBE和CONSORT清单。

结果

对30篇文章的综述显示,在首次筛查中,与自然妊娠相比,妊娠相关血浆蛋白-A显著低于正常值,而游离β-人绒毛膜促性腺激素,尤其是在体外受精(IVF)和卵胞浆内单精子注射(ICSI)中显著更高。一些研究还表明,ART导致的妊娠头三个月颈项透明层增加。在一些研究中,第二次筛查的生化标志物显示抑制素-A增加,甲胎蛋白减少,与正常值相比,未结合雌三醇明显减少。

结论

由于促排卵激素的存在、多个黄体、双胞胎或多胞胎、IVF类型以及ICSI中卵细胞质的变化,标志物水平可能有所不同。研究表明,应针对每种ART(分别为IVF和ICSI)对母体血清标志物的浓度,尤其是游离β-人绒毛膜促性腺激素和妊娠相关血浆蛋白-A进行不同的调整。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbe1/12186174/2aea49175848/ijrb-23-225-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbe1/12186174/2aea49175848/ijrb-23-225-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dbe1/12186174/2aea49175848/ijrb-23-225-g001.jpg

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本文引用的文献

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Analysis of the impact of noninvasive prenatal testing for trisomies 21 and 18 in twin pregnancies undergoing artificial reproductive technology.分析在接受人工生殖技术的双胞胎妊娠中,非侵入性产前检测 21 三体和 18 三体的影响。
Medicine (Baltimore). 2022 Aug 19;101(33):e29985. doi: 10.1097/MD.0000000000029985.
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Maternal-fetal attachment and anxiety in pregnant women who conceived through assisted reproductive technology: A longitudinal study.通过辅助生殖技术受孕的孕妇的母婴依恋与焦虑:一项纵向研究。
Int J Reprod Biomed. 2022 Jan 12;19(12):1075-1084. doi: 10.18502/ijrm.v19i12.10058. eCollection 2021 Dec.
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Trisomy 21 and Assisted Reproductive Technologies: A review.
三体 21 与辅助生殖技术:综述。
JBRA Assist Reprod. 2022 Jan 17;26(1):129-141. doi: 10.5935/1518-0557.20210047.
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Comparison of First Trimester Screening for Down's Syndrome Using Free Beta-Human Chorionic Gonadotropin and Pregnancy-Associated Plasma Protein-A Levels between Spontaneous and IVF Pregnancies at 12 Weeks of Gestation.孕12周时自然妊娠与体外受精妊娠中使用游离β-人绒毛膜促性腺激素和妊娠相关血浆蛋白A水平进行孕早期唐氏综合征筛查的比较。
Int J Fertil Steril. 2019 Jul;13(2):93-96. doi: 10.22074/ijfs.2019.5295. Epub 2019 Apr 27.
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Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study.游离胎儿 DNA 检测与母体血清学筛查在辅助生殖技术孕妇与非辅助生殖技术孕妇中 21 三体的应用:一项前瞻性干预性研究。
Genet Med. 2018 Nov;20(11):1346-1353. doi: 10.1038/gim.2018.4. Epub 2018 Mar 1.
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Cell-free fetal DNA testing in singleton IVF conceptions.游离胎儿 DNA 检测在单胚胎 IVF 妊娠中的应用。
Hum Reprod. 2018 Apr 1;33(4):572-578. doi: 10.1093/humrep/dey033.
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Down syndrome maternal serum markers in oocyte donation and other assisted reproductive technologies.卵母细胞捐赠和其他辅助生殖技术中的唐氏综合征母体血清标志物。
Prenat Diagn. 2017 Nov;37(11):1155-1159. doi: 10.1002/pd.5157.
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